Varaico: Literature-Extracted Genetic Variants

Gene:CHST5
Variant:p.P226L

CHST5

50 papers

RefSeq Summary

The protein encoded by this gene belongs to the Gal/GalNAc/GlcNAc 6-O-sulfotransferase (GST) family, members of which catalyze the transfer of sulfate to position 6 of galactose (Gal), N-acetylgalacto...

Pfam Domains

Sulfotransfer_1aa 62–379UCSCSulfotransferase domain

Gene Aliases

HGNC Name

carbohydrate sulfotransferase 5

HGNC Alias Symbols

I-GLCNAC-6-ST; FLJ22167

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_024533.5
p.P226L
c.677C>T
Surrounding Variants
1 paper
NM_024533.5
p.R224R
c.672C>T
1 paper
NM_024533.5
p.A214V
c.641C>T
1 paper
NM_024533.5
p.G245D
c.734G>A
1 paper
NM_024533.5
p.I246M
c.738C>G
1 paper
NM_024533.5
p.Q204*
c.610C>T
1 paper
NM_024533.5
p.V198fs
c.592_593fs
2 papers
NM_024533.5
p.V198E
c.593T>A
1 paper
NM_024533.5
p.V198delFs
c.592delC
1 paper
NM_024533.5
p.W254*
c.761G>A
1 paper
NM_024533.5
p.W254*
c.762G>A
2 papers
NM_024533.5
p.R184Q
c.551G>A
1 paper
NM_024533.5
p.R184W
c.550C>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."